RGD:13524170 Rat Genome Database

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Variant: RGD:13524170 -  Homo sapiens

RGD ID: 13524170
RS ID: rs576969206
ClinVar ID: CV486677
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IFT81  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 110,581,190
GRCh38 12 110,143,385
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_054774.2:p.Leu262Ter
NG_052859.1:g.24051T>G
NM_031473.4:c.785T>G
NC_000012.11:g.110581190T>G
More... 		10/15/2018 intron variant pathogenic|likely pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IFT81
Accession:NM_014055
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 262
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDQIKFIMDSLNKEPFRKNYNLITFDSLEPMQLLQVLSDVLAEIDPKQLVDIREEMPEQTAKRMLSLLGILKYKPSGNA
TDMSTFRQGLVIGSKPVIYPVLHWLLQRTNELKKRAYLARFLIKLEVPSEFLQDETVADTNKQYEELMEAFKTLHKEYEQ
LKISGFSTAEIRKDISAMEEEKDQLIKRVEHLKKRVETAQNHQWMLKIARQLRVEKEREEYLAQQKQEQKNQLFHAVQRL
QRVQNQLKSMRQAAADAKPES*MKRLEEEIKFNLYMVTEKFPKELENKKKELHFLQKVVSEPAMGHSDLLELESKINEIN
TEINQLIEKKMMRNEPIEGKLSLYRQQASIISRKKEAKAEELQEAKEKLASLEREASVKRNQTREFDGTEVLKGDEFKRY
VNKLRSKSTVFKKKHQIIAELKAEFGLLQRTEELLKQRHENIQQQLQTMEEKKGISGYSYTQEELERVSALKSEVDEMKG
RTLDDMSEMVKKLYSLVSEKKSALASVIKELRQLRQKYQELTQECDEKKSQYDSCAAGLESNRSKLEQEVRRLREECLQE
ESRYHYTNCMIKNLEVQLRRATDEMKAYISSDQQEKRKAIREQYTKNTAEQENLGKKLREKQKVIRESHGPNMKQAKMWR
DLEQLMECKKQCFLKQQSQTSIGQVIQEGGEDRLIL*

Gene Symbol:IFT81
Accession:NM_001143779
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 262
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDQIKFIMDSLNKEPFRKNYNLITFDSLEPMQLLQVLSDVLAEIDPKQLVDIREEMPEQTAKRMLSLLGILKYKPSGNA
TDMSTFRQGLVIGSKPVIYPVLHWLLQRTNELKKRAYLARFLIKLEVPSEFLQDETVADTNKQYEELMEAFKTLHKEYEQ
LKISGFSTAEIRKDISAMEEEKDQLIKRVEHLKKRVETAQNHQWMLKIARQLRVEKEREEYLAQQKQEQKNQLFHAVQRL
QRVQNQLKSMRQAAADAKPES*MKRLEEEIKFNLYMVTEKFPKELENKKKELHFLQKVVSEPAMGHSDLLELESKINEIN
TEINQLIEKKMMRNEPIEGKLSLYRQQASIISRKKEAKAEELQEAKEKLASLEREASVKRNQTREFDGTEVLKGDEFKRY
VNKLRSKSTVFKKKHQIIAELKAEFGLLQRTEELLKQRHENIQQQLQTMEEKKGISGYSYTQEELERVSALKSEVDEMKG
RTLDDMSEMVKKLYSLVSEKKSALASVIKELRQLRQKYQELTQECDEKKSQYDSCAAGLESNRSKLEQEVRRLREECLQE
ESRYHYTNCMIKNLEVQLRRATDEMKAYISSDQQEKRKAIREQYTKNTAEQENLGKKLREKQKVIRESHGPNMKQAKMWR
DLEQLMECKKQCFLKQQSQTSIGQVIQEGGEDRLIL*

Gene Symbol:IFT81
Accession:NM_031473
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 262
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDQIKFIMDSLNKEPFRKNYNLITFDSLEPMQLLQVLSDVLAEIDPKQLVDIREEMPEQTAKRMLSLLGILKYKPSGNA
TDMSTFRQGLVIGSKPVIYPVLHWLLQRTNELKKRAYLARFLIKLEVPSEFLQDETVADTNKQYEELMEAFKTLHKEYEQ
LKISGFSTAEIRKDISAMEEEKDQLIKRVEHLKKRVETAQNHQWMLKIARQLRVEKEREEYLAQQKQEQKNQLFHAVQRL
QRVQNQLKSMRQAAADAKPES*MKRLEEEIKFNLYMVTEKFPKELENKKKELHFLQKVVSEPAMGHSDLLELESKINEIN
TEINQLIEKKMMRNEPIEGKLSLYRQQASIISRKKEAKAEELQEAKEKLASLEREASVKRNQTREFDGTEVLKGDERQDL
TLSPRLECGGVIMAYCSLKLLGSSDPPTSAS*

Gene Symbol:IFT81
Accession:XM_017019217
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 262
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDQIKFIMDSLNKEPFRKNYNLITFDSLEPMQLLQVLSDVLAEIDPKQLVDIREEMPEQTAKRMLSLLGILKYKPSGNA
TDMSTFRQGLVIGSKPVIYPVLHWLLQRTNELKKRAYLARFLIKLEVPSEFLQDETVADTNKQYEELMEAFKTLHKEYEQ
LKISGFSTAEIRKDISAMEEEKDQLIKRVEHLKKRVETAQNHQWMLKIARQLRVEKEREEYLAQQKQEQKNQLFHAVQRL
QRVQNQLKSMRQAAADAKPES*MKRLEEEIKFNLYMVTEKFPKELENKKKELHFLQKVVSEPAMGHSDLLELESKINEIN
TEINQLIEKKMMRNEPIEGKLSLYRQQASIISRKKEAKAEELQEAKEKLASLEREASVKRNQTREFDGTEVLKGDEFKRY
VNKLRSKSTVFKKKHQIIAELKAEFGLLQRTEELLKQRHENIQQQLQTMEEKKGISGYSYTQEELERVSALKSEVDEMKG
RTLDDMSEMVKKLYSLVSEKKSALASVIKELRQLRQKYQELTQECDEKKSQYDSCAAGLESNRSKLEQEVRRLREECLQE
ESRYHYTNCMIKNLEVQLRRATDEMKAYISSDQQEKRKAIREQYTKNTAEQENLGKKLREKQKVIRESHGPNMKQAKMWR
DLEQLMECKKQCFLKQQSQTSIGQVIQEGGEDRLIL*

Gene Symbol:IFT81
Accession:NM_001347946
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 262
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDQIKFIMDSLNKEPFRKNYNLITFDSLEPMQLLQVLSDVLAEIDPKQLVDIREEMPEQTAKRMLSLLGILKYKPSGNA
TDMSTFRQGLVIGSKPVIYPVLHWLLQRTNELKKRAYLARFLIKLEVPSEFLQDETVADTNKQYEELMEAFKTLHKEYEQ
LKISGFSTAEIRKDISAMEEEKDQLIKRVEHLKKRVETAQNHQWMLKIARQLRVEKEREEYLAQQKQEQKNQLFHAVQRL
QRVQNQLKSMRQAAADAKPES*MKRLEEEIKFNLYMVTEKFPKELENKKKELHFLQKVVSEPAMGHSDLLELESKINEIN
TEINQLIEKKMMRNEPIEGKLSLYRQQASIISRKKEAKAEELQEAKEKLASLEREASVKRNQTREFDGTEVLKGDERQDL
TLSPRLECGGVIMAYCSLKLLGSSDPPTSAS*

Gene Symbol:IFT81
Accession:XR_944523
Location:EXON;NON-CODING

Gene Symbol:IFT81
Accession:XR_001748670
Location:EXON;NON-CODING

Gene Symbol:IFT81
Accession:NR_144952
Location:EXON;NON-CODING

Gene Symbol:IFT81
Accession:NR_144949
Location:EXON;NON-CODING

Gene Symbol:IFT81
Accession:NR_144951
Location:EXON;NON-CODING

Gene Symbol:IFT81
Accession:XR_007063070
Location:EXON;NON-CODING

Gene Symbol:IFT81
Accession:NM_001347948
Location:INTRON

Gene Symbol:IFT81
Accession:NM_001347947
Location:INTRON

Gene Symbol:IFT81
Accession:NR_144950
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:27666822  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000585747 CLINVAR
dbSNP (RS) rs576969206 CLINVAR
MedGen C4693524 CLINVAR
NCBI Gene IFT81 CLINVAR
OMIM 605489 CLINVAR
  617895 CLINVAR
OMIM Allele 605489.0005 CLINVAR